Ehlers-Danlos症候群を背景に発症した気胸に対する2手術例
Ehlers-Danlos症候群（EDS）はコラーゲンやその修飾酵素の遺伝子異常により結合組織脆弱性を来す遺伝性疾患群である．我々はEDS合併の気胸手術を2例経験した．症例1は43歳女性，網膜剥離の既往と両肺多発空洞を有していた．左初発気胸に対し左肺下葉の空洞性病変を切除したが，staple lineおよび把持した肺実質から気漏を生じ修復を要した．既往，術前画像，術中所見からEDSを疑い，術後の遺伝子検査にて古典型EDSの診断に至った．症例2は38歳女性，下行結腸穿孔の既往があり血管型EDSと診断されていた．右気胸再発に対し右肺上葉の囊胞縫縮術を施行したが，把持した肺実質から気漏を認め，肺部分...
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| Published in | 日本呼吸器外科学会雑誌 Vol. 36; no. 5; pp. 554 - 561 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
特定非営利活動法人 日本呼吸器外科学会
15.07.2022
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| Subjects | |
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| ISSN | 0919-0945 1881-4158 |
| DOI | 10.2995/jacsurg.36.554 |
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| Abstract | Ehlers-Danlos症候群（EDS）はコラーゲンやその修飾酵素の遺伝子異常により結合組織脆弱性を来す遺伝性疾患群である．我々はEDS合併の気胸手術を2例経験した．症例1は43歳女性，網膜剥離の既往と両肺多発空洞を有していた．左初発気胸に対し左肺下葉の空洞性病変を切除したが，staple lineおよび把持した肺実質から気漏を生じ修復を要した．既往，術前画像，術中所見からEDSを疑い，術後の遺伝子検査にて古典型EDSの診断に至った．症例2は38歳女性，下行結腸穿孔の既往があり血管型EDSと診断されていた．右気胸再発に対し右肺上葉の囊胞縫縮術を施行したが，把持した肺実質から気漏を認め，肺部分切除と壁側胸膜擦過を追加した．2例とも切除標本では組織中の弾性線維は維持されていたが肺実質は極めて脆弱であり，EDS合併が疑われる気胸手術では組織脆弱性に注意した愛護的な操作が肝要である． |
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| AbstractList | Ehlers-Danlos症候群（EDS）はコラーゲンやその修飾酵素の遺伝子異常により結合組織脆弱性を来す遺伝性疾患群である．我々はEDS合併の気胸手術を2例経験した．症例1は43歳女性，網膜剥離の既往と両肺多発空洞を有していた．左初発気胸に対し左肺下葉の空洞性病変を切除したが，staple lineおよび把持した肺実質から気漏を生じ修復を要した．既往，術前画像，術中所見からEDSを疑い，術後の遺伝子検査にて古典型EDSの診断に至った．症例2は38歳女性，下行結腸穿孔の既往があり血管型EDSと診断されていた．右気胸再発に対し右肺上葉の囊胞縫縮術を施行したが，把持した肺実質から気漏を認め，肺部分切除と壁側胸膜擦過を追加した．2例とも切除標本では組織中の弾性線維は維持されていたが肺実質は極めて脆弱であり，EDS合併が疑われる気胸手術では組織脆弱性に注意した愛護的な操作が肝要である． |
| Author | 菱田, 智之 淺村, 尚生 西田, 梨紗 江本, 桂 加勢田, 馨 政井, 恭兵 |
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| References | 12. Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 2005; 42: 98-106. 13. Shalhub S, Neptune E, Sanchez DE, Dua A, Arellano N, McDonnell NB, et al. Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. Am J Med Genet A 2019; 179: 797-802. 22. Kawabata Y, Watanabe A, Yamaguchi S, Aoshima M, Shiraki A, Hatamochi A, et al. Pleuropulmonary pathology of vascular Ehlers-Danlos syndrome: spontaneous laceration, haematoma and fibrous nodules. Histopathology 2010; 56: 944-50. 2. Danlos PM. Un cas de cutis lasa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvenile pseudodiabetique de MM. Halopeau et Mace de Lepinay). Bull Sot Franc Derm Syph 1908; 19: 70-2. 4. Ayres JG, Pope FM, Reidy JF, Clark TJ. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax 1985; 40: 300-5. 20. 國井英治, 森 俊之, 村松秀樹, 加藤 研, 高野裕子, 福田悟史, 他. 繰り返す気胸と喀血で発見された血管型Ehlers-Danlos症候群の1例. 気管支学 2011; 33: 43-8. 21. Churg A, Wright JL, Bilawich A. Cicatricial organising pneumonia mimicking a fibrosing interstitial pneumonia. Histopathology 2018; 72: 846-54. 15. Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, et al. Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. Eur Respir J 2002; 19: 195-8. 11. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 2017; 175: 40-7. 19. Park MA, Shin SY, Kim YJ, Park MJ, Lee SH. Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report. Medicine 2017; 96: e8853. 14. Ishiguro T, Takayanagi N, Kawabata Y, Matsushima H, Yoshii Y, Harasawa K, et al. Ehlers-Danlos Syndrome with Recurrent Spontaneous Pneumothoraces and Cavitary Lesion on Chest X-ray as the Initial Complications. Intern Med 2009; 48: 717-22. 3. Abel MD, Carrasco LR. Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006; 102: 582-90. 1. Ehlers E. Cutis laxa, Neigung zu Haemorrhagien in der Ham, lackerrung mehrerer Artikulationen. Derm Zschr 1901; 8: 173-4. 6. Wenstrup RJ, Florer JB, Brunskill EW, Bell SM, Chervoneva I, Birk DE. Type V collagen controls the initiation of collagen fibril assembly. J Biol Chem 2004; 279: 53331-7. 9. Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, et al. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet 2015; 23: 1657-64. 17. Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet 2017; 175: 27-39. 5. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 International Classification of the Ehlers-Danlos Syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 8-26. 7. Mao JR, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest 2001; 107: 1063-9. 18. Berezowska S, Christe A, Bartholdi D, Koch M, von Garnier C. Pulmonary fibrous nodule with ossifications may indicate vascular ehlers-Danlos syndrome with missense mutation in COL3A1. Am J Respir Crit Care Med 2018; 197: 661-2. 8. Kuivaniemi H, Tromp G. Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. Gene 2019; 707: 151-71. 10. Pepin M, Schwarze U, Superti-Furga F, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000; 342: 673-80. 16. Dar RA, Wani SH, Mushtaque M, Kasana RA. Spontaneous hemo-pneumothorax in a patient with Ehlers-Danlos syndrome. Gen Thorac Cardiovasc Surg 2012; 60: 587-9. |
| References_xml | – reference: 19. Park MA, Shin SY, Kim YJ, Park MJ, Lee SH. Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report. Medicine 2017; 96: e8853. – reference: 13. Shalhub S, Neptune E, Sanchez DE, Dua A, Arellano N, McDonnell NB, et al. Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. Am J Med Genet A 2019; 179: 797-802. – reference: 17. Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet 2017; 175: 27-39. – reference: 11. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 2017; 175: 40-7. – reference: 22. Kawabata Y, Watanabe A, Yamaguchi S, Aoshima M, Shiraki A, Hatamochi A, et al. Pleuropulmonary pathology of vascular Ehlers-Danlos syndrome: spontaneous laceration, haematoma and fibrous nodules. Histopathology 2010; 56: 944-50. – reference: 12. Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 2005; 42: 98-106. – reference: 9. Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, et al. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet 2015; 23: 1657-64. – reference: 10. Pepin M, Schwarze U, Superti-Furga F, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000; 342: 673-80. – reference: 14. Ishiguro T, Takayanagi N, Kawabata Y, Matsushima H, Yoshii Y, Harasawa K, et al. Ehlers-Danlos Syndrome with Recurrent Spontaneous Pneumothoraces and Cavitary Lesion on Chest X-ray as the Initial Complications. Intern Med 2009; 48: 717-22. – reference: 8. Kuivaniemi H, Tromp G. Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. Gene 2019; 707: 151-71. – reference: 20. 國井英治, 森 俊之, 村松秀樹, 加藤 研, 高野裕子, 福田悟史, 他. 繰り返す気胸と喀血で発見された血管型Ehlers-Danlos症候群の1例. 気管支学 2011; 33: 43-8. – reference: 4. Ayres JG, Pope FM, Reidy JF, Clark TJ. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax 1985; 40: 300-5. – reference: 5. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 International Classification of the Ehlers-Danlos Syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 8-26. – reference: 6. Wenstrup RJ, Florer JB, Brunskill EW, Bell SM, Chervoneva I, Birk DE. Type V collagen controls the initiation of collagen fibril assembly. J Biol Chem 2004; 279: 53331-7. – reference: 16. Dar RA, Wani SH, Mushtaque M, Kasana RA. Spontaneous hemo-pneumothorax in a patient with Ehlers-Danlos syndrome. Gen Thorac Cardiovasc Surg 2012; 60: 587-9. – reference: 21. Churg A, Wright JL, Bilawich A. Cicatricial organising pneumonia mimicking a fibrosing interstitial pneumonia. Histopathology 2018; 72: 846-54. – reference: 15. Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, et al. Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. Eur Respir J 2002; 19: 195-8. – reference: 3. Abel MD, Carrasco LR. Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006; 102: 582-90. – reference: 18. Berezowska S, Christe A, Bartholdi D, Koch M, von Garnier C. Pulmonary fibrous nodule with ossifications may indicate vascular ehlers-Danlos syndrome with missense mutation in COL3A1. Am J Respir Crit Care Med 2018; 197: 661-2. – reference: 2. Danlos PM. Un cas de cutis lasa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvenile pseudodiabetique de MM. Halopeau et Mace de Lepinay). Bull Sot Franc Derm Syph 1908; 19: 70-2. – reference: 1. Ehlers E. Cutis laxa, Neigung zu Haemorrhagien in der Ham, lackerrung mehrerer Artikulationen. Derm Zschr 1901; 8: 173-4. – reference: 7. Mao JR, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest 2001; 107: 1063-9. |
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| Snippet | Ehlers-Danlos症候群（EDS）はコラーゲンやその修飾酵素の遺伝子異常により結合組織脆弱性を来す遺伝性疾患群である．我々はEDS合併の気胸手術を2例経験した．症例1は43歳... |
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| SubjectTerms | Ehlers-Danlos症候群 古典型EDS 手術 気胸 血管型EDS |
| Title | Ehlers-Danlos症候群を背景に発症した気胸に対する2手術例 |
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